Variant report

Variant	rs1807900
Chromosome Location	chr13:96590457-96590458
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1596710	0.82[EUR][1000 genomes]
rs1980942	0.83[EUR][1000 genomes]
rs1996054	0.80[EUR][1000 genomes]
rs2389530	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2774113	0.84[EUR][1000 genomes]
rs3099359	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs34482628	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34859372	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4773927	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs481927	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs489179	0.86[AFR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs509572	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs511029	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs555221	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs566894	0.85[EUR][1000 genomes]
rs576184	0.86[AFR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs595696	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6492826	0.86[EUR][1000 genomes]
rs7992824	0.80[EUR][1000 genomes]
rs7994626	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7998903	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs816139	0.84[EUR][1000 genomes]
rs9516620	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9516626	0.84[EUR][1000 genomes]
rs9516629	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9525081	0.82[EUR][1000 genomes]
rs9525085	0.83[EUR][1000 genomes]
rs9525086	0.83[EUR][1000 genomes]
rs9525091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9525093	0.87[EUR][1000 genomes]
rs9525098	0.85[EUR][1000 genomes]
rs9561979	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs9742440	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832691	chr13:96478098-96659823	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv900935	chr13:96497070-96631221	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1050430	chr13:96508530-97020734	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv541883	chr13:96508530-97020734	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1041165	chr13:96522021-96966520	Enhancers Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1051574	chr13:96550653-96779248	Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv1040320	chr13:96573646-96790859	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1807900	UGGT2	cis	Muscle Skeletal	GTEx
rs1807900	UGCGL2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96495000-96590800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr13:96577000-96623200	Weak transcription	NHLF	lung
3	chr13:96577200-96598000	Weak transcription	HMEC	breast
4	chr13:96577800-96608800	Weak transcription	NHEK	skin
5	chr13:96584000-96599200	Weak transcription	Colonic Mucosa	Colon
6	chr13:96584200-96611000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr13:96584600-96592000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr13:96584600-96592200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr13:96584600-96592800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr13:96585000-96592600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr13:96585200-96592400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr13:96585800-96592200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr13:96586000-96601200	Weak transcription	NHDF-Ad	bronchial
14	chr13:96586200-96592400	Strong transcription	HSMM	muscle
15	chr13:96586400-96591600	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr13:96586400-96592200	Strong transcription	Liver	Liver
17	chr13:96586600-96592200	Strong transcription	Adipose Nuclei	Adipose
18	chr13:96586600-96601400	Weak transcription	HUVEC	blood vessel
19	chr13:96587200-96592200	Strong transcription	Stomach Smooth Muscle	stomach
20	chr13:96587400-96592200	Strong transcription	Brain Cingulate Gyrus	brain
21	chr13:96587600-96592400	Strong transcription	Muscle Satellite Cultured Cells	--
22	chr13:96587600-96592600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr13:96587800-96592200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr13:96588000-96592200	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr13:96588200-96592200	Strong transcription	Duodenum Smooth Muscle	Duodenum
26	chr13:96588200-96592600	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr13:96588200-96593000	Weak transcription	Fetal Brain Male	brain
28	chr13:96588400-96591600	Strong transcription	Fetal Muscle Trunk	muscle
29	chr13:96588400-96592600	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr13:96588600-96592200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr13:96588600-96603400	Weak transcription	NH-A	brain
32	chr13:96588800-96590600	Weak transcription	Hela-S3	cervix
33	chr13:96588800-96592200	Strong transcription	Fetal Intestine Large	intestine
34	chr13:96588800-96596400	Weak transcription	Colon Smooth Muscle	Colon
35	chr13:96588800-96605400	Weak transcription	Primary hematopoietic stem cells	blood
36	chr13:96588800-96606400	Weak transcription	Fetal Heart	heart
37	chr13:96588800-96611200	Weak transcription	Gastric	stomach
38	chr13:96589000-96590600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr13:96589000-96590600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr13:96589000-96590600	Weak transcription	Brain Angular Gyrus	brain
41	chr13:96589000-96590600	Weak transcription	Fetal Brain Female	brain
42	chr13:96589000-96590800	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr13:96589000-96591000	Weak transcription	Duodenum Mucosa	Duodenum
44	chr13:96589000-96591000	Weak transcription	Fetal Lung	lung
45	chr13:96589000-96591000	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr13:96589000-96592200	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr13:96589000-96592200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr13:96589000-96592200	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr13:96589000-96592400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr13:96589000-96592400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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